“Diseases of the synaptic vesicle: a potential new group of neurometabolic disorders affecting neurotransmission”

The general concept of inborn error of metabolism is currently evolving and travels to the interface between classical biochemistry and cellular biology. Basic neuroscience is providing increasing knowledge about the mechanisms of neurotransmission and novel related disorders are being described. There is a necessity of updating the classic concept of “inborn error of neurotransmitters” that considers mainly defects of synthesis, catabolism and transport of low weight neurotransmitter (NT) molecules.

Source: Seminars in Pediatric Neurology - November 14, 2016 Category: Neurology Authors: EMD. Cort ès-Saladelafont, A. Tristán-Noguero, R. Artuch, X. Altafaj, A. Bayès, A. García-Cazorla Source Type: research